Late onset type of propionic acidaemia: case report and biochemical studies.
A late-onset case of propionic acidaemia with favourable response to restriction of dietary protein is described. During a keto-acidotic crisis, this patient demonstrated unexpectedly low concentrations of propionic acid and glycine in blood and urine but increased urinary output of some secondary metabolites.
D000138:Acidosis / Q000378:metabolism*; D000592:Amino Acid Metabolism, Inborn Errors; D019735:Carbon-Carbon Ligases; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine; D007223:Infant; D007662:Ketosis / Q000378:metabolism; D008025:Ligases / Q000172:deficiency*; D011422:Propionates / Q000097:blood*
D006885:Hydroxybutyrates; D011422:Propionates; C003603:tiglylglycine; C016579:2-methyl-3-hydroxybutyric acid; D008025:Ligases; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing); C029658:propionic acid; D005998:Glycine